Canonical Allele Identifier: PA1139747905
Gene: UBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 945215
ClinVar RCV Id: RCV001215799
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_695012.1:p.Arg544Gln
CA412801370
NM_153280.3:c.1631G>A